NM_000492.3:c.1418del

HGVS Expressions

  • NG_016465.4:g.98706del
  • NM_000492.3:c.1418del
  • NP_000483.3:p.Gly473GlufsTer54
  • NC_000007.14:g.117559489del
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Clinvar

53251

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.56Saudi Arabia1NAPathogenicCystic FibrosisEl-Harith et al. 1997 Patient number 'CF30' in the publication...
219700.57Saudi Arabia1NAPathogenicCystic FibrosisEl-Harith et al. 1997 Patient number 'CF32' in the publication...
219700.58Saudi Arabia1NAPathogenicCystic FibrosisEl-Harith et al. 1997 Patient number 'CF40' in the publication...
219700.77Saudi Arabia2Likely PathogenicCystic FibrosisAlhathal et al. 2020
219700.G.2.4KuwaitNANAPathogenicCystic FibrosisSamilchuk, 2005 Unknown number of patients
219700.G.9.2Saudi Arabia4NAPathogenicCystic FibrosisBanjar, 2004 Twins comorbid for cystic fibrosis and c...
219700.G.14.5United Arab EmiratesNANAPathogenicCystic FibrosisShafiq et al.2021 Mutations reported with a population fre...
© CAGS 2024. All rights reserved.